ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580305367
Gene: SPOCK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004589.1:p.Leu175Ile
CA3421890
NM_004598.4:c.523C>A